A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584899



Internal ID18423683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143611680..143636819hg38UCSC Ensembl
Innerchr8:144693850..144718989hg19UCSC Ensembl
Innerchr8:144764993..144790132hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3825140
hg1925140
hg1825140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838447, essv9838448
Samples1WS, KSF024
Known GenesTSTA3, ZNF623
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)esv3584899
Frequency
Sample Size34
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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